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Clinical Evaluation of Sibling Pairs With Gaucher Disease Discordant for Parkinsonism.

Lopez G, Steward A, Ryan E, Groden C, Wiggs E, Segalà L, Monestime GM, Tayebi N, Sidransky E.

Mov Disord. 2019 Nov 30. doi: 10.1002/mds.27916. [Epub ahead of print]


Variation in cognitive function over time in Gaucher disease type 3.

Steward AM, Wiggs E, Lindstrom T, Ukwuani S, Ryan E, Tayebi N, Roshan Lal T, Lopez G, Schiffmann R, Sidransky E.

Neurology. 2019 Nov 12. pii: 10.1212/WNL.0000000000008618. doi: 10.1212/WNL.0000000000008618. [Epub ahead of print]


Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

Sidransky E, Arkadir D, Bauer P, Dinur T, Lopez G, Rolfs A, Zimran A.

Mov Disord. 2019 Nov 11. doi: 10.1002/mds.27903. [Epub ahead of print] No abstract available.


A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

Aflaki E, Stubblefield BK, McGlinchey RP, McMahon B, Ory DS, Sidransky E.

Neurobiol Dis. 2019 Nov 9;134:104647. doi: 10.1016/j.nbd.2019.104647. [Epub ahead of print]


Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders.

Ryan E, Seehra GK, Sidransky E.

Mol Genet Metab. 2019 Sep - Oct;128(1-2):10-13. doi: 10.1016/j.ymgme.2019.08.006. Epub 2019 Aug 20. No abstract available.


Glucocerebrosidase and its relevance to Parkinson disease.

Do J, McKinney C, Sharma P, Sidransky E.

Mol Neurodegener. 2019 Aug 29;14(1):36. doi: 10.1186/s13024-019-0336-2. Review.


Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

Farfel-Becker T, Do J, Tayebi N, Sidransky E.

Trends Neurosci. 2019 Sep;42(9):631-643. doi: 10.1016/j.tins.2019.05.010. Epub 2019 Jul 6. Review.


Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.

Seehra G, Solomon B, Ryan E, Steward AM, Roshan Lal T, Tanima Y, Lopez G, Sidransky E.

Mol Genet Metab. 2019 Jul;127(3):191-199. doi: 10.1016/j.ymgme.2019.06.002. Epub 2019 Jun 8.


GBA1-associated parkinsonism: new insights and therapeutic opportunities.

Ryan E, Seehra G, Sharma P, Sidransky E.

Curr Opin Neurol. 2019 Aug;32(4):589-596. doi: 10.1097/WCO.0000000000000715.


C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's disease.

McGlinchey RP, Lacy SM, Huffer KE, Tayebi N, Sidransky E, Lee JC.

J Biol Chem. 2019 Jun 21;294(25):9973-9984. doi: 10.1074/jbc.RA119.008930. Epub 2019 May 15.


Ophthalmological findings in Gaucher disease.

Eghbali A, Hassan S, Seehra G, FitzGibbon E, Sidransky E.

Mol Genet Metab. 2019 May;127(1):23-27. doi: 10.1016/j.ymgme.2019.02.002. Epub 2019 Feb 15. Review.


First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L.

Hertz E, Thörnqvist M, Holmberg B, Machaczka M, Sidransky E, Svenningsson P.

Mov Disord Clin Pract. 2019 Mar 7;6(3):254-258. doi: 10.1002/mdc3.12743. eCollection 2019 Mar.


Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.

Qi W, Davidson BA, Nguyen M, Lindstrom T, Grey RJ, Burnett R, Aflaki E, Sidransky E, Westbroek W.

Biochem J. 2019 Jan 25;476(2):261-274. doi: 10.1042/BCJ20180708.


Exploring genetic modifiers of Gaucher disease: The next horizon.

Davidson BA, Hassan S, Garcia EJ, Tayebi N, Sidransky E.

Hum Mutat. 2018 Dec;39(12):1739-1751. doi: 10.1002/humu.23611. Epub 2018 Sep 11. Review.


Recent advances in the diagnosis and management of Gaucher disease.

Gary SE, Ryan E, Steward AM, Sidransky E.

Expert Rev Endocrinol Metab. 2018 Mar;13(2):107-118. doi: 10.1080/17446651.2018.1445524. Epub 2018 Mar 12.


Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Hassan S, Lopez G, Stubblefield BK, Tayebi N, Sidransky E.

Mol Genet Metab. 2018 Sep;125(1-2):1-3. doi: 10.1016/j.ymgme.2018.06.013. Epub 2018 Jun 28.


Development of Zwitterionic Polypeptide Nanoformulation with High Doxorubicin Loading Content for Targeted Drug Delivery.

Lin W, Ma G, Yuan Z, Qian H, Xu L, Sidransky E, Chen S.

Langmuir. 2019 Feb 5;35(5):1273-1283. doi: 10.1021/acs.langmuir.8b00851. Epub 2018 Jul 10.


ACE phenotyping in Gaucher disease.

Danilov SM, Tikhomirova VE, Metzger R, Naperova IA, Bukina TM, Goker-Alpan O, Tayebi N, Gayfullin NM, Schwartz DE, Samokhodskaya LM, Kost OA, Sidransky E.

Mol Genet Metab. 2018 Apr;123(4):501-510. doi: 10.1016/j.ymgme.2018.02.007. Epub 2018 Feb 17.


Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E.

Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21.


Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Hagege E, Grey RJ, Lopez G, Roshan Lal T, Sidransky E, Tayebi N.

Am J Med Genet A. 2017 Dec;173(12):3211-3215. doi: 10.1002/ajmg.a.38487. Epub 2017 Nov 1.


The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Roshan Lal T, Sidransky E.

Diseases. 2017 Mar 2;5(1). pii: E10. doi: 10.3390/diseases5010010. Review.


The role of epigenetics in lysosomal storage disorders: Uncharted territory.

Hassan S, Sidransky E, Tayebi N.

Mol Genet Metab. 2017 Nov;122(3):10-18. doi: 10.1016/j.ymgme.2017.07.012. Epub 2017 Aug 1. Review.


Induced pluripotent stem cell models of lysosomal storage disorders.

Borger DK, McMahon B, Roshan Lal T, Serra-Vinardell J, Aflaki E, Sidransky E.

Dis Model Mech. 2017 Jun 1;10(6):691-704. doi: 10.1242/dmm.029009. Review.


The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.

Aflaki E, Westbroek W, Sidransky E.

Neuron. 2017 Feb 22;93(4):737-746. doi: 10.1016/j.neuron.2017.01.018. Review.


Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism.

McMahon B, Aflaki E, Sidransky E.

Neural Regen Res. 2016 Nov;11(11):1760-1761. doi: 10.4103/1673-5374.194717. No abstract available.


Efferocytosis is impaired in Gaucher macrophages.

Aflaki E, Borger DK, Grey RJ, Kirby M, Anderson S, Lopez G, Sidransky E.

Haematologica. 2017 Apr;102(4):656-665. doi: 10.3324/haematol.2016.155093. Epub 2016 Dec 23.


Gaucher disease: Progress and ongoing challenges.

Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):8-21. doi: 10.1016/j.ymgme.2016.11.006. Epub 2016 Nov 17. Review.


GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z.

Neurol Genet. 2016 Sep 8;2(5):e104. doi: 10.1212/NXG.0000000000000104. eCollection 2016 Oct.


A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.

Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E.

Dis Model Mech. 2016 Jul 1;9(7):769-78. doi: 10.1242/dmm.024588. Epub 2016 May 19.


Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

Mazzulli JR, Zunke F, Tsunemi T, Toker NJ, Jeon S, Burbulla LF, Patnaik S, Sidransky E, Marugan JJ, Sue CM, Krainc D.

J Neurosci. 2016 Jul 20;36(29):7693-706. doi: 10.1523/JNEUROSCI.0628-16.2016.


A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E.

J Neurosci. 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016.


Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E.

Neurol Genet. 2016 Mar 4;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr.


Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.

Jung O, Patnaik S, Marugan J, Sidransky E, Westbroek W.

Expert Rev Proteomics. 2016 May;13(5):471-9. doi: 10.1080/14789450.2016.1174583. Epub 2016 Apr 21. Review.


Once again, rare diseases provide a spotlight.

Lal TR, Borger DK, Sidransky E.

Mol Genet Metab. 2016 May;118(1):1-2. doi: 10.1016/j.ymgme.2016.03.002. Epub 2016 Mar 5. No abstract available.


Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.

Monestime G, Borger DK, Kim J, Lopez G, Allgaeuer M, Jain D, Vortmeyer A, Wang HW, Sidransky E.

Mol Genet Metab. 2016 May;118(1):55-9. doi: 10.1016/j.ymgme.2016.02.008. Epub 2016 Feb 28.


A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.

Gramlich PA, Westbroek W, Feldman RA, Awad O, Mello N, Remington MP, Sun Y, Zhang W, Sidransky E, Betenbaugh MJ, Fishman PS.

J Biotechnol. 2016 Mar 10;221:1-12. doi: 10.1016/j.jbiotec.2016.01.015. Epub 2016 Jan 18.


Clinical studies of GBA1-associated parkinsonism: progress and challenges.

Lopez G, Monestime G, Sidransky E.

Neurodegener Dis Manag. 2016;6(1):1-4. doi: 10.2217/nmt.15.68. No abstract available.


Applications of iPSC-derived models of Gaucher disease.

Borger DK, Aflaki E, Sidransky E.

Ann Transl Med. 2015 Nov;3(19):295. doi: 10.3978/j.issn.2305-5839.2015.10.41. No abstract available.


Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease.

Teefe E, Kim J, Lopez G, Sidransky E.

Mol Genet Metab Rep. 2015 Dec 1;5:107-109.


Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.

Aflaki E, Moaven N, Borger DK, Lopez G, Westbroek W, Chae JJ, Marugan J, Patnaik S, Maniwang E, Gonzalez AN, Sidransky E.

Aging Cell. 2016 Feb;15(1):77-88. doi: 10.1111/acel.12409. Epub 2015 Oct 21.


Deficient vesicular storage: A common theme in catecholaminergic neurodegeneration.

Goldstein DS, Holmes C, Sullivan P, Mash DC, Sidransky E, Stefani A, Kopin IJ, Sharabi Y.

Parkinsonism Relat Disord. 2015 Sep;21(9):1013-22. doi: 10.1016/j.parkreldis.2015.07.009. Epub 2015 Jul 17.


New macrophage models of Gaucher disease offer new tools for drug development.

Borger DK, Sidransky E, Aflaki E.

Macrophage (Houst). 2015;2(1):e712.


Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.

Sgambato JA, Park TS, Miller D, Panicker LM, Sidransky E, Lun Y, Awad O, Bentzen SM, Zambidis ET, Feldman RA.

Stem Cells Transl Med. 2015 Aug;4(8):878-86. doi: 10.5966/sctm.2014-0213. Epub 2015 Jun 10.


Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.

Gruschus JM, Jiang Z, Yap TL, Hill SA, Grishaev A, Piszczek G, Sidransky E, Lee JC.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):561-6. doi: 10.1016/j.bbrc.2015.01.024. Epub 2015 Jan 17.


Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.

Siebert M, Westbroek W, Chen YC, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E.

RNA Biol. 2014;11(10):1291-300. doi: 10.1080/15476286.2014.996085.


The clinical management of Type 2 Gaucher disease.

Weiss K, Gonzalez A, Lopez G, Pedoeim L, Groden C, Sidransky E.

Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14. Review.


Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy.

Yap TL, Jiang Z, Heinrich F, Gruschus JM, Pfefferkorn CM, Barros M, Curtis JE, Sidransky E, Lee JC.

J Biol Chem. 2015 Jan 9;290(2):744-54. doi: 10.1074/jbc.M114.610584. Epub 2014 Nov 26.


Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.

Aflaki E, Stubblefield BK, Maniwang E, Lopez G, Moaven N, Goldin E, Marugan J, Patnaik S, Dutra A, Southall N, Zheng W, Tayebi N, Sidransky E.

Sci Transl Med. 2014 Jun 11;6(240):240ra73. doi: 10.1126/scitranslmed.3008659.


Glucocerebrosidase is shaking up the synucleinopathies.

Siebert M, Sidransky E, Westbroek W.

Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14. Review.


Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.

Murphy KE, Gysbers AM, Abbott SK, Tayebi N, Kim WS, Sidransky E, Cooper A, Garner B, Halliday GM.

Brain. 2014 Mar;137(Pt 3):834-48. doi: 10.1093/brain/awt367. Epub 2014 Jan 28.

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